Multiple cutaneous and uterine leiomyomata with features of benign metastasing leiomyomatosis: a novel mutation of the fumarate hydratase gene

Multiple cutaneous and uterine leiomyomata with features of benign metastasing leiomyomatosis: a... Multiple cutaneous and uterine leiomyomata/hereditary leiomyomatosis and renal cell cancer (MCUL/HLRCC) is a rare tumour syndrome characterized by cutaneous and uterine leiomyomata. Renal cell carcinoma occurs in approximately 16% of patients with MCUL/HLRCC. There is an association with mutations in the fumarate hydratase (FH) gene.Benign metastasing leiomyomatosis (BML), first described by Steiner in 1939, is a rare disease that usually occurs in women with a history of uterine leiomyomata. It is characterized by the metastasis of multiple benign leiomyomata to distant extrauterine sites, and no associated genetic mutations have been reported to date. We report the case of a woman with features of both MCUL/HLRCC and BML with a novel mutation in the FH gene.A 47‐year‐old woman presented with lesions on her trunk, which had been present since her early 20s. Her medical history included a hysterectomy for uterine leiomyomata. In addition, she had a 2‐year history of dyspnoea, for which she had presented to the respiratory service at our hospital before being referred to us. At that time, multiple pulmonary nodules were identified by radiography of the chest and computed tomography (CT) of the thorax. Lung biopsy revealed histology consistent with benign leiomyomata, and she was diagnosed with http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical & Experimental Dermatology Wiley

Multiple cutaneous and uterine leiomyomata with features of benign metastasing leiomyomatosis: a novel mutation of the fumarate hydratase gene

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Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
Copyright © 2018 British Association of Dermatologists
ISSN
0307-6938
eISSN
1365-2230
D.O.I.
10.1111/ced.13332
Publisher site
See Article on Publisher Site

Abstract

Multiple cutaneous and uterine leiomyomata/hereditary leiomyomatosis and renal cell cancer (MCUL/HLRCC) is a rare tumour syndrome characterized by cutaneous and uterine leiomyomata. Renal cell carcinoma occurs in approximately 16% of patients with MCUL/HLRCC. There is an association with mutations in the fumarate hydratase (FH) gene.Benign metastasing leiomyomatosis (BML), first described by Steiner in 1939, is a rare disease that usually occurs in women with a history of uterine leiomyomata. It is characterized by the metastasis of multiple benign leiomyomata to distant extrauterine sites, and no associated genetic mutations have been reported to date. We report the case of a woman with features of both MCUL/HLRCC and BML with a novel mutation in the FH gene.A 47‐year‐old woman presented with lesions on her trunk, which had been present since her early 20s. Her medical history included a hysterectomy for uterine leiomyomata. In addition, she had a 2‐year history of dyspnoea, for which she had presented to the respiratory service at our hospital before being referred to us. At that time, multiple pulmonary nodules were identified by radiography of the chest and computed tomography (CT) of the thorax. Lung biopsy revealed histology consistent with benign leiomyomata, and she was diagnosed with

Journal

Clinical & Experimental DermatologyWiley

Published: Jan 1, 2018

References

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